"Invitae"[submitter] AND "LOC107075317"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2065651	NM_175875.5(SIX5):c.1162C>T (p.Pro388Ser)	LOC107075317, SIX5 (P388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008773	NM_175875.5(SIX5):c.1135G>A (p.Glu379Lys)	LOC107075317, SIX5 (E379K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466943	NM_175875.5(SIX5):c.1134C>T (p.Ser378=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2999672	NM_175875.5(SIX5):c.1116C>G (p.Pro372=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784788	NM_175875.5(SIX5):c.1104T>C (p.Pro368=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532991	NM_175875.5(SIX5):c.1103C>T (p.Pro368Leu)	LOC107075317, SIX5 (P368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1946920	NM_175875.5(SIX5):c.1098T>A (p.Gly366=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315682	NM_175875.5(SIX5):c.1091G>T (p.Gly364Val)	LOC107075317, SIX5 (G364V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2793816	NM_175875.5(SIX5):c.1075C>G (p.Leu359Val)	LOC107075317, SIX5 (L359V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100302	NM_175875.5(SIX5):c.1058C>T (p.Ala353Val)	LOC107075317, SIX5 (A353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882079	NM_175875.5(SIX5):c.1054G>A (p.Glu352Lys)	LOC107075317, SIX5 (E352K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908764	NM_175875.5(SIX5):c.1049T>C (p.Leu350Pro)	LOC107075317, SIX5 (L350P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890563	NM_175875.5(SIX5):c.1047_1048insTGG (p.Ala349_Leu350insTrp)	LOC107075317, SIX5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 668435	NM_175875.5(SIX5):c.1042C>T (p.Leu348=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1620184	NM_175875.5(SIX5):c.1035C>T (p.Ile345=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801893	NM_175875.5(SIX5):c.1027G>A (p.Val343Ile)	SIX5, LOC107075317 (V343I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716152	NM_175875.5(SIX5):c.1023C>A (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732703	NM_175875.5(SIX5):c.1023C>T (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 2065266	NM_175875.5(SIX5):c.1018G>C (p.Gly340Arg)	LOC107075317, SIX5 (G340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682292	NM_175875.5(SIX5):c.1014C>A (p.Leu338=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874809	NM_175875.5(SIX5):c.1005A>G (p.Ala335=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055558	NM_175875.5(SIX5):c.1000C>T (p.Pro334Ser)	LOC107075317, SIX5 (P334S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2012657	NM_175875.5(SIX5):c.1000C>G (p.Pro334Ala)	LOC107075317, SIX5 (P334A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628024	NM_175875.5(SIX5):c.993C>T (p.Ser331=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3015612	NM_175875.5(SIX5):c.952T>C (p.Ser318Pro)	LOC107075317, SIX5 (S318P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961728	NM_175875.5(SIX5):c.938C>T (p.Ala313Val)	LOC107075317, SIX5 (A313V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748766	NM_175875.5(SIX5):c.936C>T (p.Pro312=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2191559	NM_175875.5(SIX5):c.919G>A (p.Ala307Thr)	LOC107075317, SIX5 (A307T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 730320	NM_175875.5(SIX5):c.915C>T (p.Phe305=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1522665	NM_175875.5(SIX5):c.913T>G (p.Phe305Val)	LOC107075317, SIX5 (F305V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975075	NM_175875.5(SIX5):c.906C>T (p.Gly302=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899916	NM_175875.5(SIX5):c.900C>G (p.Ala300=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 738315	NM_175875.5(SIX5):c.894C>T (p.Ala298=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8599	NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	LOC107075317, SIX5 (A296T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 739242	NM_175875.5(SIX5):c.879A>G (p.Pro293=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910190	NM_175875.5(SIX5):c.861G>C (p.Leu287=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715379	NM_175875.5(SIX5):c.855G>A (p.Glu285=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996499	NM_175875.5(SIX5):c.846A>G (p.Arg282=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884825	NM_175875.5(SIX5):c.845G>A (p.Arg282Gln)	LOC107075317, SIX5 (R282Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852405	NM_175875.5(SIX5):c.834C>G (p.Asp278Glu)	LOC107075317, SIX5 (D278E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064471	NM_175875.5(SIX5):c.834C>A (p.Asp278Glu)	LOC107075317, SIX5 (D278E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709744	NM_175875.5(SIX5):c.832G>A (p.Asp278Asn)	LOC107075317, SIX5 (D278N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507629	NM_175875.5(SIX5):c.811G>A (p.Asp271Asn)	SIX5, LOC107075317 (D271N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2997271	NM_175875.5(SIX5):c.804-7C>T	LOC107075317, SIX5	Single nucleotide variant (intron variant)	SIX5-related condition +1 more	GLikely benign
Select item 2971915	NM_175875.5(SIX5):c.804-14A>G	LOC107075317, SIX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897479	NM_175875.5(SIX5):c.804-15C>T	LOC107075317, SIX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606562	NM_175875.5(SIX5):c.792G>T (p.Ala264=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 594586	NM_175875.5(SIX5):c.732G>A (p.Gln244=)	SIX5, DM1-AS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1995118	NM_175875.5(SIX5):c.722C>T (p.Ser241Leu)	DM1-AS, LOC107075317 +1 more (S241L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 727884	NM_175875.5(SIX5):c.720G>A (p.Leu240=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 501374	NM_175875.5(SIX5):c.714C>G (p.Thr238=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1983829	NM_175875.5(SIX5):c.706A>G (p.Thr236Ala)	DM1-AS, LOC107075317 +1 more (T236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189994	NM_175875.5(SIX5):c.704C>T (p.Ala235Val)	DM1-AS, LOC107075317 +1 more (A235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021751	NM_175875.5(SIX5):c.687C>A (p.Asp229Glu)	SIX5, DM1-AS +1 more (D229E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908926	NM_175875.5(SIX5):c.656G>A (p.Cys219Tyr)	DM1-AS, LOC107075317 +1 more (C219Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316728	NM_175875.5(SIX5):c.636C>T (p.Ser212=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918598	NM_175875.5(SIX5):c.628G>A (p.Glu210Lys)	DM1-AS, LOC107075317 +1 more (E210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717258	NM_175875.5(SIX5):c.626A>G (p.Lys209Arg)	DM1-AS, LOC107075317 +1 more (K209R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514988	NM_175875.5(SIX5):c.624C>T (p.Phe208=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2829930	NM_175875.5(SIX5):c.604G>T (p.Glu202Ter)	DM1-AS, LOC107075317 +1 more (E202*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1653359	NM_175875.5(SIX5):c.603C>T (p.Gly201=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 2125099	NM_175875.5(SIX5):c.602G>T (p.Gly201Val)	DM1-AS, LOC107075317 +1 more (G201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569060	NM_175875.5(SIX5):c.600C>T (p.Asp200=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938877	NM_175875.5(SIX5):c.591C>T (p.Thr197=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744309	NM_175875.5(SIX5):c.576C>T (p.Phe192=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related condition +1 more	GLikely benign
Select item 2183157	NM_175875.5(SIX5):c.558T>C (p.Tyr186=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1316705	NM_175875.5(SIX5):c.543C>A (p.Gly181=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2872875	NM_175875.5(SIX5):c.537G>T (p.Ala179=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071310	NM_175875.5(SIX5):c.528C>T (p.Arg176=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979694	NM_175875.5(SIX5):c.517G>T (p.Glu173Ter)	DM1-AS, LOC107075317 +1 more (E173*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2884635	NM_175875.5(SIX5):c.493C>G (p.Leu165Val)	DM1-AS, LOC107075317 +1 more (L165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681903	NM_175875.5(SIX5):c.493C>T (p.Leu165=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 8598	NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)	DM1-AS, LOC107075317 +1 more (A158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798520	NM_175875.5(SIX5):c.468C>T (p.His156=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079288	NM_175875.5(SIX5):c.463G>A (p.Ala155Thr)	LOC107075317, SIX5 +1 more (A155T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473471	NM_175875.5(SIX5):c.457C>T (p.Pro153Ser)	DM1-AS, LOC107075317 +1 more (P153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2994841	NM_175875.5(SIX5):c.453C>G (p.Pro151=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015432	NM_175875.5(SIX5):c.445A>G (p.Ser149Gly)	DM1-AS, LOC107075317 +1 more (S149G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582990	NM_175875.5(SIX5):c.436C>T (p.Leu146=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663206	NM_175875.5(SIX5):c.423C>G (p.Ala141=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613892	NM_175875.5(SIX5):c.420C>T (p.Tyr140=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395910	NM_175875.5(SIX5):c.414C>T (p.Gly138=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041874	NM_175875.5(SIX5):c.394C>G (p.Leu132Val)	DM1-AS, LOC107075317 +1 more (L132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967044	NM_175875.5(SIX5):c.382C>A (p.Arg128Ser)	DM1-AS, LOC107075317 +1 more (R128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782651	NM_175875.5(SIX5):c.375G>C (p.Pro125=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3010143	NM_175875.5(SIX5):c.347C>G (p.Pro116Arg)	DM1-AS, LOC107075317 +1 more (P116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932399	NM_175875.5(SIX5):c.300G>A (p.Gln100=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183158	NM_175875.5(SIX5):c.264C>G (p.Pro88=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GUncertain significance
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1318014	NM_175875.5(SIX5):c.238C>T (p.Pro80Ser)	DM1-AS, LOC107075317 +2 more (P80S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2548932	NM_175875.5(SIX5):c.230C>T (p.Ala77Val)	DM1-AS, LOC107075317 +2 more (A77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	SIX5, LOC129929037 +2 more (E75V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2778062	NM_175875.5(SIX5):c.218C>T (p.Pro73Leu)	DM1-AS, LOC107075317 +2 more (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043065	NM_175875.5(SIX5):c.217C>T (p.Pro73Ser)	DM1-AS, LOC107075317 +2 more (P73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500193	NM_175875.5(SIX5):c.213G>T (p.Gly71=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1957822	NM_175875.5(SIX5):c.198C>T (p.Ser66=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967651	NM_175875.5(SIX5):c.182C>T (p.Ala61Val)	DM1-AS, LOC107075317 +2 more (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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